Rao A K, Sheth S, Kaplan R
Division of Hematology and Thromboembolic Diseases, Temple University School of Medicine, Philadelphia, PA 19140, USA.
Vasc Med. 1997 Nov;2(4):313-20. doi: 10.1177/1358863X9700200407.
Hypercoagulable states are a group of conditions associated with increased predisposition to thromboembolic events. Most of the inherited abnormalities recognized to date are associated with venous thromboembolism (VTE) rather than arterial thrombosis. The well-recognized inherited hypercoagulable states are the deficiencies of antithrombin, protein C and protein S, and the resistance to APC (factor V Leiden). These entities represent aberrations in the natural anticoagulant systems that exist in plasma. Other causes of inherited thrombophilia include abnormalities in the proteins of the fibrinolytic system, dysfibrinogenemias, deficiency of heparin cofactor II, abnormal thrombomodulin, elevated levels of histidine-rich glycoprotein, and the recently described variation in the prothrombin gene. One entity that has become firmly established as a predisposing factor for recurrent VTE is hyperhomocysteinemia. About half of VTE episodes in patients with inherited thrombophilias occur in relation to events that are generally recognized as predisposing states, such as surgery, pregnancy (particularly puerperium) and immobilization. In this review, the risks of VTE associated with inherited risk factors are discussed, and guidelines for the diagnosis and management are presented.
高凝状态是一组与血栓栓塞事件易感性增加相关的病症。迄今为止所确认的大多数遗传性异常与静脉血栓栓塞(VTE)相关,而非动脉血栓形成。公认的遗传性高凝状态包括抗凝血酶、蛋白C和蛋白S缺乏,以及对活化蛋白C(因子V莱顿)的抵抗。这些实体代表了血浆中天然抗凝系统的异常。遗传性血栓形成倾向的其他原因包括纤维蛋白溶解系统蛋白异常、异常纤维蛋白原血症、肝素辅因子II缺乏、血栓调节蛋白异常、富含组氨酸糖蛋白水平升高,以及最近描述的凝血酶原基因变异。已被确认为复发性VTE易感因素的一个实体是高同型半胱氨酸血症。遗传性血栓形成倾向患者中约一半的VTE发作与通常被认为是易感状态的事件有关,如手术、妊娠(尤其是产褥期)和制动。在本综述中,讨论了与遗传性危险因素相关的VTE风险,并提出了诊断和管理指南。